AI-Powered Genomic Intelligence

Precision Medicine,
Personally Forged

"Every genome tells a unique story. We built the AI to read it."

DeepSky's AI platform interprets genetic variants in the context of each patient's complete genome — replacing one-size-fits-all lookups with intelligent, personalized analysis.

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Born at Cold Spring Harbor Laboratory · Koo Lab

The Challenge

A $966 Billion Interpretation Crisis

300M+
People worldwide living with a rare disease
95%
Of clinical variants show context-dependent effects across genomic backgrounds
50%
Of rare disease patients still lack a definitive genetic diagnosis
double-click to interactDouble helix — the language of life

Today's clinical genomics compares every patient's variants against a single reference genome. But our research shows that the same variant can have dramatically different effects depending on the patient's unique genomic context — like using a dictionary to edit a novel. It catches typos, but misses whether the sentence actually makes sense.

Our Insight

From Spellcheck to Editor

Current variant interpretation is like running spellcheck on a manuscript. DeepSky provides an intelligent editor that understands context, meaning, and nuance.

Current Standard

The Spellcheck

Traditional variant interpretation flags individual "misspellings" by comparing each variant against a single reference dictionary.

  • Compares variants to one reference genome
  • Flags deviations as "pathogenic" or "benign"
  • No awareness of surrounding genomic context
  • Same verdict regardless of patient background
  • Misses how variants interact with each other
vs
DeepSky's AI Platform

The Editor

DeepSky's AI reads the entire genomic manuscript. It understands how each "word" changes meaning in context.

  • Analyzes variants within each patient's full genome
  • Understands context-dependent effects and interactions
  • Fresh AI computation for every individual
  • Personalized interpretation, not one-size-fits-all
  • Catches what spellcheck misses — the meaning
Our Platform

AI-First Genomic Intelligence

Built from the ground up with modern AI at its core, DeepSky brings deep learning to every patient's genome.

double-click to interactNeural lattice — AI architecture for genomic intelligence

Deep Learning Core

Purpose-built neural architectures trained on millions of genomic backgrounds, delivering variant effect predictions that account for each patient's unique context.

Personalized Computation

Every analysis is computed fresh — like a skilled editor reviewing a manuscript from scratch, not a spellchecker running the same dictionary on every document.

Population-Scale Mapping

AI-driven variant response mapping across diverse populations, enabling pharmaceutical partners to stratify patients and predict therapeutic response.

🛡

Privacy by design. DeepSky's architecture brings algorithms to the data — not data to us. Partner institutions maintain full custody of patient information while benefiting from our AI analysis.

Who We Serve

Built for the Precision Medicine Ecosystem

Biopharma Partners

For companies developing nucleic acid therapeutics and gene therapies, DeepSky answers: which patients will respond to your therapy, and why?

AI-powered patient stratification for clinical trials
Variant response mapping across diverse genomic backgrounds
Insights that accelerate enrollment and reduce screen failures
Proprietary datasets that compound in value with each partnership

Clinical Geneticists

DeepSky augments clinical expertise — with the clinician always in the loop.

Context-aware variant interpretation per patient
AI insights that support, never replace, clinical judgment
Reduced variants of uncertain significance (VUS)
Seamless integration with existing workflows

Patients & Families

Behind every genome is a human story. DeepSky ensures access to the most intelligent interpretation of genetic data.

Ending the diagnostic odyssey with AI
Personalized insights across your complete genetic picture
Faster path from diagnosis to targeted treatment
Equitable access across diverse populations
Why This Matters

The Story of Baby KJ

double-click to interactPrecision medicine — where technology meets compassion

One infant. One rare mutation.
A personalized CRISPR therapy.

KJ Muldoon was born with CPS1 deficiency — affecting ~1 in 1.3 million people. About 50% of infants with the severe form die in the first week of life.

A team at CHOP and Penn Medicine designed a bespoke CRISPR base-editing therapy in just six months. KJ received his first dose in February 2025 and has since shown remarkable improvement.

This level of personalization cannot scale with today's tools. That's the problem DeepSky solves.

Our AI platform automates the personalized genomic intelligence that made KJ's therapy possible — for every patient, not just the fortunate few.

Day 2 — Diagnosis

Ammonia exceeds 1,000 µmol/L. Severe CPS1 deficiency confirmed at CHOP.

Months 1-6 — Sprint

Bespoke CRISPR base-editing therapy designed, manufactured, and FDA-cleared in six months.

Month 7 — Treatment

KJ receives first infusion of personalized gene therapy. He sleeps through the procedure.

Month 10 — Going Home

After 307 days at CHOP, KJ is discharged — tolerating protein, reducing meds, hitting milestones.

The Challenge Ahead

"If we only treat one patient, then we failed." DeepSky makes personalized genomic analysis scalable.

Research

Publications & Preprints

Our Team

The Minds Behind DeepSky

BS Brian Schilder

Brian Schilder, PhD

Founder & CEO
Cold Spring Harbor Laboratory

Postdoctoral fellow in the Koo Lab developing AI systems for personalized genomic interpretation. Expert in computational genomics and deep learning.

PK Peter Koo

Peter Koo, PhD

Scientific Advisor
Cold Spring Harbor Laboratory

Associate Professor and PI studying deep learning approaches for genomics and regulatory biology at the Simons Center for Quantitative Biology.

Join Our Team

Multiple Roles
DeepSky

We're looking for exceptional scientists and engineers passionate about using AI to transform precision medicine.

Join the Next Era of
Genomic Intelligence

Whether you're developing genetically-targeted therapies, interpreting patient genomes, or searching for answers — we'd love to talk.